Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_007294.4

p.L1229S

c.3686T>C

Surrounding Variants

1 paper

NM_007294.4

p.L1229*

c.3686T>A

1 paper

NM_007294.4

p.H1228_L1229delFs

c.3682_3685del4

1 paper

NM_007294.4

p.H1228insFs

c.3683_3684dupAC

2 papers

NM_007294.4

p.L1229V

c.3685T>G

1 paper

NM_007294.4

p.L1229L

c.3685T>C

1 paper

NM_007294.4

p.L1229fs

c.3685_3686fs

1 paper

NM_007294.4

p.L1230_F1231ins5

c.3688_3692ins15

1 paper

NM_007294.4

p.H1228H

c.3684C>T

1 paper

NM_007294.4

p.Q1227_H1228delFs

c.3680_3683del4

1 paper

NM_007294.4

p.L1230fs

c.3688_3689fs

13 papers

NM_007294.4

p.L1230*

c.3689T>G

1 paper

NM_007294.4

p.L1230S

c.3689T>C